Variant report
Variant | nsv1047392 |
---|---|
Chromosome Location | chr12:33528403-34427593 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4981)
- CpG islands (count:3908)
- Chromatin interactive region (count:275)
- LncRNA region (count:16)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr12:33905885-33906235 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr12:34174917-34175527 | HepG2 | liver: | n/a | chr12:34175026-34175042 chr12:34175027-34175043 |
3 | ARID3A | chr12:34372445-34372838 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr12:33831095-33831857 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr12:34417095-34417295 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr12:34098056-34098330 | HepG2 | liver: | n/a | n/a |
7 | ARID3A | chr12:34276078-34276334 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr12:34367118-34367148 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr12:34174965-34175535 | K562 | blood: | n/a | chr12:34175026-34175042 chr12:34175027-34175043 |
10 | ARID3A | chr12:34186859-34187191 | K562 | blood: | n/a | chr12:34187070-34187086 chr12:34187069-34187085 |
11 | ARID3A | chr12:33740984-33742025 | K562 | blood: | n/a | n/a |
12 | ARID3A | chr12:34276092-34276305 | HepG2 | liver: | n/a | n/a |
13 | ARID3A | chr12:33806348-33806595 | K562 | blood: | n/a | n/a |
14 | ARID3A | chr12:33807257-33807627 | K562 | blood: | n/a | n/a |
15 | ARID3A | chr12:34186930-34187207 | HepG2 | liver: | n/a | chr12:34187070-34187086 chr12:34187069-34187085 |
16 | ATF1 | chr12:34280414-34280639 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr12:33749134-33749614 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr12:33590564-33590891 | K562 | blood: | n/a | n/a |
19 | ATF1 | chr12:33740996-33741606 | K562 | blood: | n/a | n/a |
20 | ATF1 | chr12:33807257-33807582 | K562 | blood: | n/a | n/a |
21 | ATF1 | chr12:33905799-33906217 | K562 | blood: | n/a | n/a |
22 | ATF1 | chr12:33580111-33580282 | K562 | blood: | n/a | n/a |
23 | ATF1 | chr12:33582476-33582638 | K562 | blood: | n/a | n/a |
24 | ATF1 | chr12:34407159-34407233 | K562 | blood: | n/a | n/a |
25 | ATF1 | chr12:34175112-34175525 | K562 | blood: | n/a | n/a |
26 | ATF1 | chr12:34372443-34372838 | K562 | blood: | n/a | n/a |
27 | ATF1 | chr12:33837952-33838076 | K562 | blood: | n/a | n/a |
28 | ATF1 | chr12:34250260-34250470 | K562 | blood: | n/a | n/a |
29 | ATF1 | chr12:34340026-34340130 | K562 | blood: | n/a | n/a |
30 | ATF1 | chr12:33918231-33918238 | K562 | blood: | n/a | n/a |
31 | ATF1 | chr12:34276078-34276281 | K562 | blood: | n/a | n/a |
32 | ATF2 | chr12:34175155-34175514 | H1-hESC | embryonic stem cell: | n/a | n/a |
33 | ATF2 | chr12:34175036-34175597 | GM12878 | blood: | n/a | n/a |
34 | ATF2 | chr12:33740950-33741433 | H1-hESC | embryonic stem cell: | n/a | n/a |
35 | ATF2 | chr12:34175128-34175510 | H1-hESC | embryonic stem cell: | n/a | n/a |
36 | ATF2 | chr12:34174909-34175573 | GM12878 | blood: | n/a | n/a |
37 | ATF2 | chr12:33741735-33742256 | GM12878 | blood: | n/a | n/a |
38 | ATF2 | chr12:33740922-33741468 | H1-hESC | embryonic stem cell: | n/a | n/a |
39 | ATF3 | chr12:33806344-33806588 | K562 | blood: | n/a | n/a |
40 | ATF3 | chr12:34372504-34372902 | A549 | lung: | n/a | n/a |
41 | ATF3 | chr12:34280320-34280675 | K562 | blood: | n/a | n/a |
42 | ATF3 | chr12:33740980-33741602 | K562 | blood: | n/a | n/a |
43 | ATF3 | chr12:34175051-34175608 | A549 | lung: | n/a | n/a |
44 | ATF3 | chr12:34175027-34175625 | A549 | lung: | n/a | n/a |
45 | ATF3 | chr12:34275984-34276254 | GM12878 | blood: | n/a | n/a |
46 | ATF3 | chr12:34372398-34372788 | A549 | lung: | n/a | n/a |
47 | BACH1 | chr12:33613710-33613715 | K562 | blood: | n/a | n/a |
48 | BACH1 | chr12:33905912-33906117 | H1-hESC | embryonic stem cell: | n/a | n/a |
49 | BACH1 | chr12:33536437-33536460 | K562 | blood: | n/a | n/a |
50 | BACH1 | chr12:33592008-33593130 | H1-hESC | embryonic stem cell: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:34261436-34261486 | RPTEC | kidney: | n/a |
2 | chr12:33593913-33593963 | BJ | skin: | n/a |
3 | chr12:34175567-34175617 | AG04449 | skin: | fetal |
4 | chr12:34260737-34260787 | CMK | blood: | n/a |
5 | chr12:34261436-34261486 | RPTEC | kidney: | n/a |
6 | chr12:33593913-33593963 | BJ | skin: | n/a |
7 | chr12:34175567-34175617 | AG04449 | skin: | fetal |
8 | chr12:34260737-34260787 | CMK | blood: | n/a |
9 | chr12:34361589-34361639 | AG04450 | lung: | fetal |
10 | chr12:34175445-34175495 | H1-hESC | embryonic stem cell: | embryo |
11 | chr12:34361865-34361915 | K562 | blood: | n/a |
12 | chr12:34361865-34361915 | SK-N-MC | brain: | n/a |
13 | chr12:34175567-34175617 | ECC-1 | luminal epithelium: | n/a |
14 | chr12:34259098-34259148 | BJ | skin: | n/a |
15 | chr12:33591899-33591949 | SK-N-SH_RA | brain: | n/a |
16 | chr12:34261116-34261166 | T-47D | breast: | n/a |
17 | chr12:34175567-34175617 | HEK293 | kidney: | embryo |
18 | chr12:34319734-34319784 | HCF | heart: | n/a |
19 | chr12:34319939-34319989 | HNPCEpiC | eye: | n/a |
20 | chr12:34061681-34061731 | HEK293 | kidney: | embryo |
21 | chr12:34361865-34361915 | A549 | lung: | n/a |
22 | chr12:33592642-33592692 | NB4 | blood: | n/a |
23 | chr12:33593177-33593227 | HRCEpiC | kidney: | n/a |
24 | chr12:34175454-34175504 | HRPEpiC | eye: | n/a |
25 | chr12:34001319-34001369 | HEK293 | kidney: | embryo |
26 | chr12:33528782-33528832 | NT2-D1 | testis: | n/a |
27 | chr12:34367670-34367720 | IMR90 | lung: | fetal |
28 | chr12:34319822-34319872 | ovcar-3 | ovarian: | n/a |
29 | chr12:34323943-34323993 | GM12892 | blood: | n/a |
30 | chr12:34318527-34318577 | NH-A | brain: | n/a |
31 | chr12:33592642-33592692 | AG10803 | skin: | n/a |
32 | chr12:34317569-34317619 | PANC-1 | pancreas: | n/a |
33 | chr12:34362315-34362365 | NT2-D1 | testis: | n/a |
34 | chr12:34362529-34362579 | PFSK-1 | brain: | n/a |
35 | chr12:34361006-34361056 | HepG2 | liver: | n/a |
36 | chr12:34367670-34367720 | NHBE | bronchial: | n/a |
37 | chr12:33591336-33591386 | ECC-1 | luminal epithelium: | n/a |
38 | chr12:34261116-34261166 | SK-N-SH_RA | brain: | n/a |
39 | chr12:34317983-34318033 | AG09309 | skin: | n/a |
40 | chr12:34261006-34261056 | AG10803 | skin: | n/a |
41 | chr12:34318704-34318754 | HEEpiC | esophagus: | n/a |
42 | chr12:34371861-34371911 | H1-hESC | embryonic stem cell: | embryo |
43 | chr12:34367670-34367720 | Caco-2 | colon: | n/a |
44 | chr12:34362529-34362579 | RPTEC | kidney: | n/a |
45 | chr12:34175126-34175176 | H1-hESC | embryonic stem cell: | embryo |
46 | chr12:34318527-34318577 | Caco-2 | colon: | n/a |
47 | chr12:33595118-33595168 | HAEpiC | amniotic membrane: | n/a |
48 | chr12:34319740-34319790 | HCPEpiC | choroid plexus: | n/a |
49 | chr12:34175262-34175312 | ProgFib | skin: | n/a |
50 | chr12:33593913-33593963 | AG04450 | lung: | fetal |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:34371140..34372648-chr12:127650511..127652141,3 | MCF-7 | breast: | |
2 | chr12:33591186..33595243-chr12:33750295..33755472,6 | MCF-7 | breast: | |
3 | chr12:33590785..33592619-chr12:33667736..33669567,2 | MCF-7 | breast: | |
4 | chr12:33762584..33764416-chr12:33765590..33768500,2 | MCF-7 | breast: | |
5 | chr12:33975803..33979098-chr12:33979674..33983619,4 | MCF-7 | breast: | |
6 | chr12:33579807..33580648-chr12:33758471..33759360,2 | MCF-7 | breast: | |
7 | chr12:33829191..33832015-chr12:33832800..33835417,2 | K562 | blood: | |
8 | chr12:34275785..34276629-chr12:34339119..34339912,4 | MCF-7 | breast: | |
9 | chr12:33801659..33804071-chr3:9833585..9835951,2 | MCF-7 | breast: | |
10 | chr12:33593109..33594784-chr12:33753664..33755603,2 | MCF-7 | breast: | |
11 | chr12:34372126..34372636-chr12:127650618..127651388,2 | MCF-7 | breast: | |
12 | chr12:33580522..33582279-chr12:33590834..33593788,2 | MCF-7 | breast: | |
13 | chr12:32908939..32909783-chr12:33758798..33759372,2 | MCF-7 | breast: | |
14 | chr12:33700293..33703250-chr12:33739121..33741427,2 | K562 | blood: | |
15 | chr12:33737682..33739227-chr12:33743519..33746177,2 | K562 | blood: | |
16 | chr12:33571037..33573922-chr12:33575969..33577746,2 | MCF-7 | breast: | |
17 | chr12:33830515..33832081-chr12:33832328..33834300,2 | K562 | blood: | |
18 | chr12:34372126..34372647-chr12:127650887..127651388,2 | MCF-7 | breast: | |
19 | chr12:33831200..33833987-chr12:33837460..33839264,2 | K562 | blood: | |
20 | chr12:33582705..33584694-chr12:33588953..33591212,2 | K562 | blood: | |
21 | chr12:33073552..33076364-chr12:33762087..33763941,2 | MCF-7 | breast: | |
22 | chr12:31834709..31836887-chr12:33736084..33739059,2 | K562 | blood: | |
23 | chr12:33601474..33603509-chr12:33613032..33615014,2 | K562 | blood: | |
24 | chr12:33697913..33700088-chr12:33701563..33703139,2 | K562 | blood: | |
25 | chr12:33758791..33761325-chr12:33805781..33808679,2 | K562 | blood: | |
26 | chr12:33903835..33905859-chr12:33907919..33910698,2 | MCF-7 | breast: | |
27 | chr12:34277684..34280343-chr12:34367543..34370316,2 | K562 | blood: | |
28 | chr12:33977547..33980480-chr12:33992605..33994282,2 | K562 | blood: | |
29 | chr12:33700293..33703250-chr12:33739121..33741427,2 | K562 | blood: | |
30 | chr12:33568450..33571114-chr12:33575254..33577909,2 | K562 | blood: | |
31 | chr12:33795537..33797751-chr12:33801352..33803205,2 | MCF-7 | breast: | |
32 | chr12:33828843..33831342-chr12:33831748..33833892,2 | MCF-7 | breast: | |
33 | chr12:34009182..34012663-chr12:34013902..34015537,3 | MCF-7 | breast: | |
34 | chr12:33697913..33700088-chr12:33701563..33703139,2 | K562 | blood: | |
35 | chr12:33404543..33406817-chr12:33570626..33572211,2 | MCF-7 | breast: | |
36 | chr12:32908013..32910248-chr12:33589503..33591482,2 | K562 | blood: | |
37 | chr12:33934409..33936900-chr12:33939410..33941605,3 | K562 | blood: | |
38 | chr12:33688358..33691054-chr12:33691826..33694361,2 | K562 | blood: | |
39 | chr12:33590853..33594919-chr12:33737580..33741920,6 | MCF-7 | breast: | |
40 | chr12:33615181..33617280-chr12:33622628..33625177,2 | MCF-7 | breast: | |
41 | chr12:33737757..33739747-chr12:33741389..33743027,2 | MCF-7 | breast: | |
42 | chr12:33749299..33751532-chr12:33760036..33763741,3 | MCF-7 | breast: | |
43 | chr12:33762272..33764150-chr8:42748547..42750407,2 | MCF-7 | breast: | |
44 | chr10:58407921..58410026-chr12:33604212..33606934,2 | MCF-7 | breast: | |
45 | chr12:33753748..33755380-chr12:33758835..33761146,2 | K562 | blood: | |
46 | chr12:32908104..32910738-chr12:33762406..33764699,2 | MCF-7 | breast: | |
47 | chr12:33590728..33593622-chr12:33761421..33764471,4 | MCF-7 | breast: | |
48 | chr12:33694299..33696215-chr12:33697909..33700735,2 | MCF-7 | breast: | |
49 | chr1:91852357..91853118-chr12:34372627..34373168,5 | MCF-7 | breast: | |
50 | chr12:34053367..34054987-chr12:34055066..34057564,2 | MCF-7 | breast: |
(count:16 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ALG10-6 | chr12:33870788-33871152 | NONHSAT027645 |
2 | lnc-ALG10-5 | chr12:34421984-34422141 | NONHSAT027661 |
3 | lnc-ALG10-1 | chr12:34208992-34209394 | ENSG00000256538 |
4 | lnc-PKP2-2 | chr12:33560733-33561253 | NONHSAT027643 |
5 | lnc-PKP2-2 | chr12:33579073-33579095 | NONHSAT027643 |
6 | lnc-ALG10-1 | chr12:34190373-34190583 | ENSG00000256538 |
7 | lnc-ALG10-3 | chr12:34315397-34315903 | NONHSAT027653 |
8 | lnc-ALG10-1 | chr12:34209496-34209675 | ENSG00000256538 |
9 | lnc-ALG10-2 | chr12:34315112-34315173 | ENSG00000255628 |
10 | lnc-ALG10-1 | chr12:34208992-34209394 | XLOC_009707 |
11 | lnc-ALG10-2 | chr12:34302774-34303105 | ENSG00000255628 |
12 | lnc-ALG10-1 | chr12:34190307-34190583 | XLOC_009707 |
13 | lnc-ALG10-4 | chr12:34402416-34402893 | NONHSAT140067 |
14 | lnc-ALG10-2 | chr12:34309116-34309255 | ENSG00000255628 |
15 | lnc-PKP2-1 | chr12:33557810-33558831 | ENSG00000259937.1 |
16 | lnc-ALG10-1 | chr12:34209496-34209704 | XLOC_009707 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000201624 | TF binding region |
ENSG00000264446 | TF binding region |
ENSG00000245482 | TF binding region |
ENSG00000270807 | TF binding region |
ENSG00000256986 | TF binding region |
ENSG00000265029 | TF binding region |
ENSG00000256070 | TF binding region |
ENSG00000272435 | TF binding region |
ENSG00000258794 | TF binding region |
TUBB8P4 | TF binding region |
ENSG00000255628 | TF binding region |
ENSG00000259937 | TF binding region |
RNU6-472P | TF binding region |
SYT10 | TF binding region |
ENSG00000255652 | TF binding region |
RNU6-400P | TF binding region |
ENSG00000256614 | TF binding region |
ENSG00000256538 | TF binding region |
ALG10 | TF binding region |
ENSG00000201624 | CpG island |
ENSG00000264446 | CpG island |
ENSG00000245482 | CpG island |
ENSG00000270807 | CpG island |
ENSG00000256986 | CpG island |
ENSG00000265029 | CpG island |
ENSG00000256070 | CpG island |
ENSG00000272435 | CpG island |
ENSG00000258794 | CpG island |
TUBB8P4 | CpG island |
ENSG00000255628 | CpG island |
ENSG00000259937 | CpG island |
RNU6-472P | CpG island |
SYT10 | CpG island |
ENSG00000255652 | CpG island |
RNU6-400P | CpG island |
ENSG00000256614 | CpG island |
ENSG00000256538 | CpG island |
ALG10 | CpG island |
ENSG00000250151 | chromatin interactions |
ENSG00000239776 | chromatin interactions |
ENSG00000212195 | chromatin interactions |
ENSG00000168172 | chromatin interactions |
ENSG00000175548 | chromatin interactions |
ENSG00000226958 | chromatin interactions |
ENSG00000120925 | chromatin interactions |
ENSG00000006327 | chromatin interactions |
ENSG00000241781 | chromatin interactions |
ENSG00000258101 | chromatin interactions |
ENSG00000266044 | chromatin interactions |
ENSG00000212475 | chromatin interactions |
ENSG00000139131 | chromatin interactions |
ENSG00000184697 | chromatin interactions |
ENSG00000139133 | chromatin interactions |
ENSG00000255652 | chromatin interactions |
ENSG00000131931 | chromatin interactions |
ENSG00000171148 | chromatin interactions |
ENSG00000168298 | chromatin interactions |
ENSG00000241553 | chromatin interactions |
ENSG00000167553 | chromatin interactions |
ENSG00000110975 | chromatin interactions |
PPARGC1A | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs561040406 | chr12:33528413-33528414 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs529957201 | chr12:33528441-33528442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs549802379 | chr12:33528442-33528443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs146134251 | chr12:33528499-33528500 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs532285590 | chr12:33528533-33528534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs552284902 | chr12:33528556-33528557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs185922615 | chr12:33528560-33528561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs376432948 | chr12:33528592-33528593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs189139302 | chr12:33528602-33528603 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs397851168 | chr12:33528609-33528610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs369766108 | chr12:33528628-33528629 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs568670452 | chr12:33528658-33528659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs555481335 | chr12:33528674-33528675 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs537704685 | chr12:33528712-33528713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs567662758 | chr12:33528729-33528730 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs140119098 | chr12:33528772-33528773 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs576819055 | chr12:33528783-33528784 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs538289005 | chr12:33528793-33528794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs545928577 | chr12:33528820-33528821 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs553031135 | chr12:33528839-33528840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs573262665 | chr12:33528857-33528858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs556303158 | chr12:33528873-33528874 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs181080302 | chr12:33528884-33528885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs577932431 | chr12:33528991-33528992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs73310152 | chr12:33528999-33529000 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs543728666 | chr12:33529059-33529060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs7309592 | chr12:33529062-33529063 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs371804181 | chr12:33529099-33529100 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs2389194 | chr12:33529164-33529165 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs368247837 | chr12:33529186-33529187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs11052654 | chr12:33529213-33529214 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs565653763 | chr12:33529242-33529243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs542175997 | chr12:33529276-33529277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs528148897 | chr12:33529285-33529286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs9888363 | chr12:33529288-33529289 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs568637138 | chr12:33529289-33529290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs9888320 | chr12:33529351-33529352 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
38 | rs557217990 | chr12:33529376-33529377 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs570543159 | chr12:33529404-33529405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs142297650 | chr12:33529431-33529432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs552906574 | chr12:33529472-33529473 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs573257908 | chr12:33529475-33529476 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs542304347 | chr12:33529482-33529483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs10844566 | chr12:33529487-33529488 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs115907520 | chr12:33529538-33529539 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs543766785 | chr12:33529557-33529558 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs113367840 | chr12:33529567-33529568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs563597483 | chr12:33529607-33529608 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs543545169 | chr12:33529631-33529632 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs532413781 | chr12:33529646-33529647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Testicular cancer | 18059402 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Seminomas | 18059402 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 20164919 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Cancer | 21129771 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 17133270 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Chordoma | 18071362 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 21272361 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Schizophrenia | 20967226 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Breast cancer | 21364760 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:33525600-33534600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr12:33534600-33535400 | Strong transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
3 | chr12:33535400-33536600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
4 | chr12:33536600-33536800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
5 | chr12:33536800-33537200 | Enhancers | Brain Cingulate Gyrus | brain |
6 | chr12:33536800-33537600 | Enhancers | Brain Germinal Matrix | brain |
7 | chr12:33537800-33540000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
8 | chr12:33542600-33543000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
9 | chr12:33543000-33544400 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
10 | chr12:33544400-33545400 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
11 | chr12:33566400-33575400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
12 | chr12:33570400-33575800 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
13 | chr12:33574000-33576200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
14 | chr12:33575400-33577600 | Strong transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
15 | chr12:33575800-33578200 | Strong transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
16 | chr12:33576200-33577400 | Strong transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
17 | chr12:33577400-33580400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
18 | chr12:33577600-33578400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
19 | chr12:33578200-33588400 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
20 | chr12:33578400-33579200 | Strong transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
21 | chr12:33579200-33590600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
22 | chr12:33586800-33589800 | Weak transcription | K562 | blood |
23 | chr12:33588200-33588400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
24 | chr12:33588400-33590000 | Strong transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
25 | chr12:33589800-33595600 | Active TSS | K562 | blood |
26 | chr12:33590000-33590600 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
27 | chr12:33590200-33591200 | Bivalent/Poised TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
28 | chr12:33590400-33590600 | Bivalent Enhancer | iPS-15b Cell Line | embryonic stem cell |
29 | chr12:33590400-33590600 | Active TSS | ES-UCSF4 Cell Line | embryonic stem cell |
30 | chr12:33590600-33590800 | Bivalent Enhancer | iPS-18 Cell Line | embryonic stem cell |
31 | chr12:33590600-33591000 | Active TSS | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
32 | chr12:33590600-33591200 | Transcr. at gene 5' and 3' | H9 Derived Neuron Cultured Cells | ES cell derived |
33 | chr12:33590600-33591200 | Flanking Bivalent TSS/Enh | iPS-15b Cell Line | embryonic stem cell |
34 | chr12:33590600-33592000 | Bivalent/Poised TSS | ES-UCSF4 Cell Line | embryonic stem cell |
35 | chr12:33590600-33593200 | Active TSS | Brain Anterior Caudate | brain |
36 | chr12:33590600-33593400 | Bivalent/Poised TSS | iPS-20b Cell Line | embryonic stem cell |
37 | chr12:33590800-33591000 | Flanking Bivalent TSS/Enh | ES-I3 Cell Line | embryonic stem cell |
38 | chr12:33590800-33591000 | Bivalent/Poised TSS | Brain Germinal Matrix | brain |
39 | chr12:33590800-33591000 | Flanking Bivalent TSS/Enh | Brain Dorsolateral Prefrontal Cortex | brain |
40 | chr12:33590800-33591000 | Flanking Bivalent TSS/Enh | Fetal Brain Female | brain |
41 | chr12:33590800-33591200 | Flanking Bivalent TSS/Enh | iPS-18 Cell Line | embryonic stem cell |
42 | chr12:33590800-33591400 | Flanking Bivalent TSS/Enh | H1 Cell Line | embryonic stem cell |
43 | chr12:33590800-33591600 | Bivalent/Poised TSS | Brain Hippocampus Middle | brain |
44 | chr12:33590800-33592000 | Bivalent/Poised TSS | Right Atrium | heart |
45 | chr12:33591000-33591200 | Bivalent Enhancer | Brain Angular Gyrus | brain |
46 | chr12:33591000-33591200 | Bivalent Enhancer | Fetal Brain Male | brain |
47 | chr12:33591000-33591200 | Bivalent Enhancer | Fetal Brain Female | brain |
48 | chr12:33591000-33591200 | Bivalent/Poised TSS | Pancreatic Islets | Pancreatic Islet |
49 | chr12:33591000-33591200 | Bivalent/Poised TSS | Fetal Stomach | stomach |
50 | chr12:33591000-33591400 | Flanking Active TSS | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |